Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study.

INTRODUCTION: Spinal muscular atrophy (SMA) is caused by a defect in the survival motor neuron 1 (SMN1) gene. The Cooperative Study of the natural history of SMA Type I in Taiwan is a retrospective, longitudinal, observational study that helps in further understanding SMA disease progression in patients who have not received disease-modifying therapeutic interventions. METHODS: Case report forms were used to collect demographics; genetic confirmation; SMN2 copy number; treatment patterns; and clinical outcomes including ventilator use, endotracheal tube intubation, tracheostomy, gastrostomy, complications, and survival. RESULTS: A total of 111 patients with SMA Type I were identified over the study period (1979-2015). Mean (median) age of onset and age at confirmed diagnosis were 1.3 (0.8) and 4.9 (4.4) months, respectively. SMN1 deletion/mutation was documented in 70 patients and SMN2 copy number in 32 (2 copies, n = 20; 3 copies, n = 12). At 240 months, survival probability for patients born during 1995-2015 versus 1979-1994 was significantly longer (p = 0.0057). Patients with 3 SMN2 copies showed substantially longer 240-month survival versus patients with 2 SMN2 copies. Over the 36-year period, mean (median) age at death was 31.9 (8.8) months. As of December 2015, 95 patients had died, 13 were alive, and 3 were lost to follow-up. The use of supportive measures (tracheostomy and gastrostomy) was associated with improved survival. CONCLUSIONS: These data describe the short survival of patients with SMA Type I in Taiwan in the pretreatment era, emphasizing the positive impact of supportive measures on survival.

The effects of maternal smoking exposure during pregnancy on postnatal outcomes: A cross sectional study.

BACKGROUND: The purpose of this article was to evaluate the effect of maternal smoking exposure during pregnancy on postnatal outcomes. METHODS: This prospective study enrolled 278 pregnant women in the third trimester, who were asked to complete a questionnaire which included inquires about the nature and extent of smoking exposure during their pregnancy. In addition to the questionnaire, each study subject provided urine sample for the measurement of cotinine. Using data generated from this inquiry, we analyzed the association between maternal smoking exposure and birth outcomes. RESULTS: From the 278 enrollees in this study, a minority of subjects (7.2%) smoked, while 40.6% of the study subjects were exposed to environmental tobacco smoke during pregnancy. There was significantly higher birth weight (3205.2 ± 373.1 vs 3089.7 ± 363.0 vs 2959.0 ± 403.7 g, p = 0.004), larger chest size (33.1 ± 1.7 cm vs 32.7 ± 1.5 cm vs 32.0 ± 1.7 cm, p = 0.009), higher bilirubin on postnatal day 3 (8.9 ± 1.6 vs 8.6 ± 1.5 vs 7.8 ± 1.4 mg/dL, p = 0.015), but lower maternal urinary cotinine level (83.7 ± 132.4 vs 153.2 ± 96.0 vs 800.5 ± 1027.8 µg/g creatinine, p < 0.001) in smoking-free status than in passive or active smoking status. Significant risks of birth weight < 2500 g (AOR 3.93 (95% CI 1.61-9.59), p = 0.003) and maternal urinary cotinine ≥ 143 µg/g creatinine (AOR 3.38 (95% CI 2.02-5.66), p < 0.001) were observed as smoking exposure increased. There was significantly higher birth weight (p = 0.048), larger chest size (p = 0.045), and higher bilirubin level on postnatal day 3 (p < 0.001) in the group with cotinine <143 µg/g creatinine than in the group with cotinine ≥ 143 µg/g creatinine. CONCLUSION: Our results demonstrated that maternal smoking exposure during pregnancy is associated with low birth weight and small chest circumference. Although the incidence of active smoking in Taiwanese pregnant women is low, most of them are exposed to passive smoking environment. Further studies are required to evaluate useful interventions to enhance a smoking-free environment during pregnancy.

Myeloperoxidase genetic polymorphisms and susceptibility to Kawasaki disease in Taiwanese children.

BACKGROUND/PURPOSE: The aim of this study was to investigate the myeloperoxidase (MPO) -463G>A polymorphism in Kawasaki disease (KD) patients, and the relationship between gene polymorphism and MPO levels. METHODS: A total of 334 KD children and 492 sex-matched controls were assayed for polymorphism analysis. TaqMan assays were used for genotyping. MPO was measured in 37 KD patients and 42 febrile controls. RESULTS: A significant linear trend of KD risk was found to be related to the G/G genotype (plinear trend = 0.032). The combined genotypes (G/A and A/A) of MPO -463G>A were associated with a significantly decreased KD risk compared to the G/G genotype [adjusted odds ratios (AOR) = 0.71, 95% confidence interval (CI): 0.52-0.99, p = 0.040]. In addition, KD patients with A allele were associated with a significantly decreased KD risk as compared to those with G allele (AOR = 0.73, 95% CI: 0.54-0.98, p = 0.033). MPO levels were significantly elevated in KD patients in preintravenous immunoglobulin (pre-IVIG) stage compared to febrile controls (p = 0.002). KD patients in pre-IVIG stage had significantly higher MPO levels than febrile controls in terms of G/G genotype (p = 0.003) and G allele (p < 0.001). KD patients with A allele had significantly lower MPO levels than those with G allele in post-IVIG acute stage (p = 0.042). However, there was no significant difference of individual MPO change for KD patients from pre- to post-IVIG stage in terms of genotypes (p = 0.837) or alleles (p = 0.631). CONCLUSION: Our results suggest that G allele of MPO -463G>A polymorphism is a potential genetic marker for KD risk in Taiwanese children.

Effects of flow rate on delivery of bubble continuous positive airway pressure in an in vitro model.

BACKGROUND: There has been concern over the effect of vigorous bubbling on the delivery pressure during the operation of the bubble nasal continuous positive airway pressure (CPAP) system. We investigated the relationship between intra-tubing pressure changes and flow rates in a closed bubble CPAP system in vitro. METHODS: Using an experimental (in vitro) model, the distal connecting tube of the CPAP system was immersed under the water seal to a depth of 5 cm. Sixteen different flow rates, ranging from 2 L/min to 20 L/min, were tested. The procedure was repeated 10 times at each flow rate, and the intra-tubing pressure was recorded. RESULTS: The intra-tubing pressure within the model increased as the air flow rates were adjusted from 2 L/min to 20 L/min. The relationship was represented by the following equation, pressure (cmH(2)O) = 5.37 + 0.15 x flow rate (L/min) (R(2) = 0.826, p < 0.001). CONCLUSION: These results demonstrated that the intra-tubing pressure in a bubble CPAP system was highly correlated with flow rate in vitro.

Assessment of growth from foot length in Taiwanese neonates.

BACKGROUND: Previous studies have demonstrated a positive correlation between foot length (FL) and birth body weight (BBW), birth body length (BBL), and head circumference (HC). However, there is no data on birth FL in Taiwan. The aim of this study was to evaluate FL measurement in Taiwanese neonates as a method of estimating other anthropometric indices. METHODS: In this retrospective study, we enrolled 256 babies born at our hospital and Kaohsiung Veterans General Hospital from 2003-2005. Medical records were reviewed for sex, BBW, BBL, HC, gestational age, and birth FL. Ill newborns, small-for-gestational-age babies, or those with poor birth footprints were excluded. FL at birth was measured from the center of the back of the heel to the tip of the big toe. Linear regression analysis was used to investigate the relation of FL to BBW and BBL. The intraclass correlation coefficient was used to assess inter-rater reliability. RESULTS: A total of 256 babies were reviewed. There were 136 male and 120 female neonates. The gestational age was 38.5+/-1.3 (mean+/-standard deviation) weeks, ranging from 35-42 weeks. The BBW was 3137+/-396g. The BBL was 51.1+/-2.1 cm. The HC was 33.5+/-1.7 cm. The FL was 7.4+/-0.46 cm. The regression equation for BBW (y) on FL (x) was as follows: y=486.2+360.4x (p<0.001, r=0.421). The regression equation for BBL (y) on FL (x) was as follows: y=40.1+1.45x (p<0.001, r= 0.305). The regression equation for HC (y) on FL (x) was as follows: y=14.8+2.53x (p<0.001, r=0.423). FL showed excellent reliability, with an intraclass correlation coefficient of 0.965 (p<0.001). CONCLUSION: Our study demonstrated a significant degree of correlation between FL and BBW, BBL and HC. However, it did not reliably estimate BBW, BBL, or HC-the three anthropometric indices were weakly correlated (r<0.5) with FL.

Acquired duodenal obstruction in children.

Traumatic intramural hematoma of the duodenum is a rare cause of acquired duodenal obstruction in children, and a high degree of suspicion is therefore required to make an early and accurate diagnosis. We report a 6-year-old boy whose epigastrium was impacted by the handlebar of his bicycle during a traffic accident. The boy then experienced epigastralgia. Six days later, progressive bilious vomiting suggestive of gastrointestinal obstruction was noted. Imaging studies revealed a large hematoma extending from the fourth portion of the duodenum to the jejunum. Conservative methods of treatment failed to manage his condition. He underwent laparoscopic surgery to evacuate the hematoma. We also report a case of duodenal obstruction in a previously healthy 2-year-old girl who presented for the first time with acute symptoms of proximal intestinal obstruction. Contrast examinations showed apparent barium retention over the stomach and proximal duodenum. She underwent surgery due to persistent obstruction, and a mushroom-like foreign body was detected embedded in the orifice of the windsock duodenal web. After duodenoduodenostomy and removal of the bezoar, she had a smooth recovery and tolerated feeding well. We conclude that blunt abdominal trauma and incomplete duodenal obstruction, such as that caused by duodenal web, should be considered as possible causes of acquired proximal gastrointestinal obstruction in previously healthy children, despite their rarity.

Effects of a classroom-based weight-control intervention on cardiovascular disease in elementary-school obese children.

BACKGROUND: Childhood obesity has become a growing public health issue in Taiwan. Obese children have risk factors for type 2 diabetes and cardiovascular disease. In this prospective study, we investigated the effect of a twelve-week heart health education and physical activity program on body weight and risk factors for type 2 diabetes and cardiovascular disease. METHODS: Subjects were 120 obese fifth graders (65 boys and 55 girls, aged 10-13 years (mean 10.6 yrs), body mass index (BMI) at the 95th percentile or more) and were randomly assigned to an intervention group (n=60) or control group (n=60). The intervention group received a twelve-week heart health education and physical activity program, while the control group did not. In both groups, a series of examinations were done at baseline and post-test, including height, weight, BMI, body fat, blood pressure (BP), physical fitness (800-meter running test), heart health knowledge, and serum biochemistry. Differences for baseline and post-test data were compared between both groups. RESULTS: Mean changes in the intervention group versus control group were significant for weight (P = 0.024), BMI (P = 0.047), percentage body fat (P = 0.008), physical fitness (800-meter running test) (P = 0.025), heart health knowledge (P = 0.006), total cholesterol (P = 0.027), triglycerides (P = 0.018), high-density lipoprotein cholesterol (HDL-C) (P = 0.009), low-density lipoprotein cholesterol (LDL-C) (P = 0.041), sugar (P = 0.035), insulin (P = 0.007), and insulin resistance (HOMA-IR) (P = 0.028). At post-test, weight, BMI, body fat, total cholesterol, triglycerides, LDL-C, sugar, insulin and HOMA-IR had decreased, but HDL-C had increased in the intervention group. CONCLUSIONS: A classroom-based weight-control intervention provides educational programs to promote cardiovascular health in children. This intervention is simple, practical, and beneficial for elementary school children.